Disorders of fatty acid oxidation
What is it?
Carnitine palmitoyl transferase deficiency (CPT1, CPT2) are rare disorders in which the body is missing certain enzymes that participate in oxidation of certain fats. The severity of the condition varies, and the symptoms usually appear during early childhood. These people tend to have hypoketotic hypoglycemia, which means their blood has low levels of sugar and ketones, the products in fat breakdown. The hypoglycemia is triggered when fasting or during illness or infections. The disorders occur due to mutations in the CPT 1 and 2 genes, which are inherited in autosomal recessive patterns.
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Disorders of fatty acid oxidation.
Additional names
This group contains additional names:
- Carnitine palmitoyl transferase deficiency
Signs & symptoms
Symptoms may include confusion, weakness, enlarged liver, liver failure, seizures, coma and sudden death.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include blood tests, urine tests, exercise tests, and genetic tests.
Treatment
The disorders have no cure, and treatment focuses on changes in diet. The diet recommended is rich with carbohydrates and contains low amounts of fats and protein. Also, eating often is important to prevent hypoglycemia.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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